Canonical Allele Identifier: CA343987356

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716288T>G (hg19) ; chr1:g.196747158T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747158T>G , CM000663.2:g.196747158T>G	GRCh38
NC_000001.10:g.196716288T>G , CM000663.1:g.196716288T>G	GRCh37
NC_000001.9:g.194982911T>G	NCBI36
NG_007259.1:g.100148T>G , LRG_47:g.100148T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4569T>G
ENST00000695970.1:c.3367T>G	ENSP00000512297.1:p.Leu1123Val
ENST00000695971.1:c.3520T>G	ENSP00000512298.1:p.Leu1174Val
ENST00000695972.1:c.*618T>G	ENSP00000512299.1:n.*618T>G
ENST00000695973.1:c.*1905T>G	ENSP00000512300.1:n.*1905T>G
ENST00000695974.1:c.3364T>G	ENSP00000512301.1:p.Leu1122Val
ENST00000695975.1:c.*1668T>G	ENSP00000512302.1:n.*1668T>G
ENST00000695976.1:c.3352T>G	ENSP00000512303.1:p.Leu1118Val
ENST00000695981.1:c.3541T>G	ENSP00000512306.1:p.Leu1181Val
ENST00000695984.1:c.1549T>G	ENSP00000512309.1:p.Leu517Val
ENST00000695986.1:c.*3192T>G	ENSP00000512311.1:n.*3192T>G
ENST00000695990.1:n.575T>G
ENST00000696026.1:c.*1823T>G	ENSP00000512335.1:n.*1823T>G
ENST00000696027.1:c.3535T>G	ENSP00000512336.1:p.Leu1179Val
ENST00000696028.1:c.3469T>G	ENSP00000512337.1:p.Leu1157Val
ENST00000696029.1:c.3535T>G	ENSP00000512338.1:p.Leu1179Val
ENST00000696031.1:c.*3059T>G	ENSP00000512340.1:n.*3059T>G
ENST00000696032.1:c.3541T>G	ENSP00000512341.1:p.Leu1181Val
ENST00000696033.1:c.1160-32639T>G	ENSP00000512342.1:n.1160-32639T>G
ENST00000367429.9:c.3541T>G MANE Select	ENSP00000356399.4:p.Leu1181Val
ENST00000367429.8:c.3541T>G	ENSP00000356399.4:p.Leu1181Val
ENST00000466229.5:n.6639T>G
NM_000186.3:c.3541T>G , LRG_47t1:c.3541T>G	NP_000177.2:p.Leu1181Val
XR_001737134.2:n.3727T>G
NM_000186.4:c.3541T>G MANE Select	NP_000177.2:p.Leu1181Val